Associated Papers
A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.
Targovnik HM et al.
Endocrine, 2025
The Heterozygous p.A684V Variant in the WFS1 Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype.
Otsuka S et al.
Genes, 2025
A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.
Maamouri R et al.
Ophthalmic Genetics, 2023
Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years.
Hietamäki J et al.
Eclinicalmedicine, 2022
Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.
Mair H et al.
Ophthalmic Genetics, 2022
The Impact of Mutations in Wolframin on Psychiatric Disorders.
Munshani S et al.
Frontiers in Pediatrics, 2021
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.
Rim JH et al.
Scientific Reports, 2019
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.
Kobayashi M et al.
Plos One, 2018
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients.
Blanco-Aguirre ME et al.
Gene, 2015
WFS1 mutations in hearing-impaired children.
Häkli S et al.
International Journal of Audiology, 2014
WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.
Kytövuori L et al.
Journal of Human Genetics, 2013
Primary diagnosis of Wolfram syndrome in an adult patient--case report and description of a novel pathogenic mutation.
Waschbisch A et al.
Journal of the Neurological Sciences, 2011
Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk.
Fawcett KA et al.
Diabetes, 2010
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.
Hildebrand MS et al.
American Journal of Medical Genetics. Part A, 2008
Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene.
Valéro R et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2008
Polymorphisms in wolframin (WFS1) gene are possibly related to increased risk for mood disorders.
Koido K et al.
The International Journal of Neuropsychopharmacology, 2005
Clinical application of genetic testing for deafness.
Smith RJ
American Journal of Medical Genetics. Part A, 2004
Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene.
Larsen ZM et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2004
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Cryns K et al.
Human Mutation, 2003
No association of mutations and mRNA expression of WFS1/wolframin with bipolar disorder in humans.
Kato T et al.
Neuroscience Letters, 2003
WFS1 mutations in Spanish patients with diabetes mellitus and deafness.
Domènech E et al.
European Journal of Human Genetics : Ejhg, 2002
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.
Young TL et al.
Human Molecular Genetics, 2001
Mutation screening of the Wolfram syndrome gene in psychiatric patients.
Torres R et al.
Molecular Psychiatry, 2001